发布时间:2022-08-23 09:48 原文链接: SUGCT基因编码的功能和结构描述

该基因编码一种与CaiB/baiF-CoA转移酶蛋白家族成员相似的蛋白质该基因突变与戊二酸尿Ⅲ型有关。交替剪接导致多个转录变异体。

This gene encodes a protein that is similar to members of the CaiB/baiF CoA-transferase protein family. Mutations in this gene are associated with glutaric aciduria type III. Alternate splicing results in multiple transcript variants.